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Prospective Cohort Study of Neurogenetic Diseases (CNGD)

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ClinicalTrials.gov Identifier: NCT06048523
Recruitment Status : Not yet recruiting
First Posted : September 21, 2023
Last Update Posted : September 21, 2023
Sponsor:
Information provided by (Responsible Party):
University Hospital, Bordeaux

Study Description
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Brief Summary:
Neurogenetic diseases (NGD) represent rare and hereditary forms of neurological diseases. The goal of CNGD is to create a one-window approach for NGDs, to facilitate and accelerate participation in research projects through deep phenotyping and the availability of low-cost biological samples for research teams. It is positioned as a true hub allowing new connections between clinical and basic research teams and ultimately as an incubator for translational projects for NGDs, in order to be able to initiate therapeutic trials, the ultimate objective of clinical and translational research.

Condition or disease Intervention/treatment Phase
Genetic Disease Nervous System Diseases Procedure: Patient cohort Procedure: Control cohort Not Applicable

Detailed Description:

Neurogenetic diseases (NGDs) represent rare inherited forms of neurological diseases. They constitute a constellation of different diseases, affecting neurodevelopment (syndromic or non-syndromic intellectual disabilities (ID), with or without autism spectrum disorders (ASD), epileptic encephalopathies, neurodevelopmental disorders (NDD) with or without ID... ) or leading to early neurodegeneration (Huntington's and Huntington-like disease, hereditary ataxias, hereditary spastic paraplegias (HSP), primary dystonias, neurodegeneration due to intracerebral iron accumulation (NBIA), neurometabolic diseases, etc.). Progress in the knowledge of the genetic causes of NGDs is unceasing, with the discovery of new genes involved in their determinism being continuous. As a result, the boundary between routine care and clinical research is extremely narrow and blurred, and the two activities are totally intertwined and interdependent in the care of patients.

For patients with NGDs already characterized by molecular genetics, at an early, intermediate or presymptomatic stage, we will perform a comprehensive annual standardized clinical and paraclinical evaluation for deep phenotyping as part of routine care; collection of biological samples (annual blood and urine sampling, optional skin biopsy and optional cerebrospinal fluid (CSF) sampling), for functional analyses and better understanding of the pathophysiological mechanisms involved. This study will last 3 years

Study Design
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Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 100 participants
Allocation: Non-Randomized
Intervention Model: Parallel Assignment
Masking: None (Open Label)
Primary Purpose: Basic Science
Official Title: Clinical and Paraclinical Characterisation of Neurogenetic Diseases, and Creation of a Hub to Facilitate Translational Research, From Basic to Clinical Research
Estimated Study Start Date : October 2023
Estimated Primary Completion Date : July 2026
Estimated Study Completion Date : July 2026

Resource links provided by the National Library of Medicine


Arms and Interventions
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Arm Intervention/treatment
Patient cohort
Patients with a molecularly identified NGD (80 patients in total of which 15 with LP (Lumbar Puncture) and of which 30 with cutaneous biopsy)
 Procedure: Patient cohort
  • For patients: annual follow-up in Neurogenetic reference center, as part of routine care, with exhaustive standardised clinical evaluation
  • Paraclinical monitoring (e.g. MRI, EEG, EMG, etc.) modelled on standard care according to current recommendations

  • Biological samples offered to patients in the context of research:

    • Annual blood sample
    • Annual urine sample
    • Collection of 1 skin biopsy at the inclusion visit (for 30 patients)
    • Cerebrospinal fluid sample at the inclusion visit (for 15 patients
Control cohort
Patients control: 10 controls with lumbar puncture and 10 controls without LP (Lumbar Puncture)
 Procedure: Control cohort
  • controls without LP: 1 visit for blood, urine and optional skin biopsy
  • controls with LP: additional blood and cerebrospinal fluid tubes for blood sampling and LP as part of routine care, without longitudinal follow-up


Outcome Measures
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Primary Outcome Measures :
  1. Constitution of a biobank of NGD patients correlated with clinical data [ Time Frame: Inclusion visit, 12 months visit and 24 months visit ]
    Number of participants for whom minimum clinical data have been collected and for whom at least one at least one protocol sample has been collected


Eligibility Criteria
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Ages Eligible for Study:   6 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Criteria

Inclusion Criteria:

  • Patient-specific inclusion criteria
  • Age ≥ 6 years

  • Patient with a molecularly identified NGD

    o Specific inclusion criteria for controls

  • For the 10 controls with lumbar puncture (LP): person who performed an LP for medical reasons and who consented to participate in the collection of biological samples
  • Age ≥ 18 years
  • Person matched in age (+/- 5 years) and sex to adult patient with NGD at the time of collection

Exclusion Criteria:

  • Participation in an interventional clinical trial that may interfere with our study
  • Refusal of blood collection
  • Pregnant and breastfeeding women
  • Only for patients performing LP: Contraindication to LP
  • Specific non-inclusion criteria for controls: Criterion of a neurodegenerative or inflammatory pathology of the central nervous system
Contacts and Locations
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Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT06048523


Contacts
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Contact: Chloe ANGELINI, MD +335 56 79 59 52 chloe.angelini@chu-bordeaux.fr

Sponsors and Collaborators
University Hospital, Bordeaux
Investigators
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Principal Investigator: Chloe ANGELINI, MD CHU Bordeaux
More Information
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Responsible Party: University Hospital, Bordeaux
ClinicalTrials.gov Identifier: NCT06048523    
Other Study ID Numbers: CHUBX 2022/73
First Posted: September 21, 2023    Key Record Dates
Last Update Posted: September 21, 2023
Last Verified: September 2023

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by University Hospital, Bordeaux:
Hub
Translational research
Neurogenetics disorders
Biocollection
Additional relevant MeSH terms:
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Nervous System Diseases
Genetic Diseases, Inborn